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Wednesday, March 16, 2016

Anxiety drug may help treat autism-like symptoms in rare disease

An anti-anxiety drug may reduce autistic features in a rare inherited
disease, according to a new animal study published Wednesday in the
journal Nature Communications.

In the study, researchers developed a mouse model of
Jacobsen syndrome, a rare genetic disorder in which a child is born
missing a portion of one copy of chromosome 11. About half of the
children born with the inherited disease experience social and
behavioral issues consistent with autism spectrum disorders (ASDs).
Patients with Jacobsen syndrome also face multiple health challenges,
such as congenital heart disease, intellectual disability, and
developmental and behavioral problems.

The mouse models were designed to exhibit autism-like
social behaviors, and were used to decode the molecular mechanism that
connects the genetic defect inherited in Jacobson syndrome to effects on
brain function.

"While this study focused on mice with a specific
type of genetic mutation that led to autism-like symptoms, these
findings could lead to a better understanding of the molecular
mechanisms underlying other autism spectrum disorders, and provide a
guide for the development of new potential therapies," study co-author
Dr. Paul Grossfeld, a clinical professor of pediatrics at UC San Diego
School of Medicine, and pediatric cardiologist at Rady Children's
Hospital-San Diego, said in a news release.

Researchers determined that PX-RICS— which previous research
suggested may be the missing chromosome 11 gene— is most likely the gene
responsible for autism-like syndromes in Jacobsen syndrome. They also
found that mice lacking in PX-RICS were also deficient in a protein
crucial for normal neuron function, GABAAR.

Based on this, researchers tested clonazepam, an
anti-anxiety drug, to see whether it treated autism-like symptoms in the
Jacobsen syndrome mice by boosting GABAAR. They observed
that PX-RICS-deficient mice treated with low, non-sedating doses of the
drug behaved almost normally in social tests, experienced improvements
in learning performance and were better able to deviate from established
habits.

"We now hope in the future to carry out a small pilot
clinical trial on people with Jacobsen syndrome and autism to determine
if clonazepam might help improve their autistic features," Grossfeld
said in the release.